Found: 21

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  • Genetic variability in sporadic amyotrophic lateral sclerosis.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3760, doi. 10.1093/brain/awad120
    By:
    • Daele, Sien Hilde Van;
    • Moisse, Matthieu;
    • Vugt, Joke J F A van;
    • Zwamborn, Ramona A J;
    • van der Spek, Rick;
    • Rheenen, Wouter van;
    • Eijk, Kristel Van;
    • Kenna, Kevin;
    • Corcia, Philippe;
    • Vourc'h, Patrick;
    • Couratier, Philippe;
    • Hardiman, Orla;
    • McLaughin, Russell;
    • Gotkine, Marc;
    • Drory, Vivian;
    • Ticozzi, Nicola;
    • Silani, Vincenzo;
    • Ratti, Antonia;
    • Carvalho, Mamede de;
    • Pardina, Jesús S Mora
    Publication type:
    Article

  • Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e313, doi. 10.1093/brain/awu299
    By:
    • van Rheenen, Wouter;
    • Diekstra, Frank P.;
    • van den Berg, Leonard H.;
    • Veldink, Jan H.
    Publication type:
    Article

  • Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-021-01006-6
    By:
    • Restuadi, Restuadi;
    • Steyn, Frederik J.;
    • Kabashi, Edor;
    • Ngo, Shyuan T.;
    • Cheng, Fei-Fei;
    • Nabais, Marta F.;
    • Thompson, Mike J.;
    • Qi, Ting;
    • Wu, Yang;
    • Henders, Anjali K.;
    • Wallace, Leanne;
    • Bye, Chris R.;
    • Turner, Bradley J.;
    • Ziser, Laura;
    • Mathers, Susan;
    • McCombe, Pamela A.;
    • Needham, Merrilee;
    • Schultz, David;
    • Kiernan, Matthew C.;
    • van Rheenen, Wouter
    Publication type:
    Article

  • Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS.

    Published in:
    PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035333
    By:
    • Diekstra, Frank P.;
    • Saris, Christiaan G. J.;
    • Rheenen, Wouter van;
    • Franke, Lude;
    • Jansen, Ritsert C.;
    • van Es, Michael A.;
    • van Vught, Paul W. J.;
    • Blauw, Hylke M.;
    • Groen, Ewout J. N.;
    • Horvath, Steve;
    • Estrada, Karol;
    • Rivadeneira, Fernando;
    • Hofman, Albert;
    • Uitterlinden, Andre G.;
    • Robberecht, Wim;
    • Andersen, Peter M.;
    • Melki, Judith;
    • Meininger, Vincent;
    • Hardiman, Orla;
    • Landers, John E.
    Publication type:
    Article

  • Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00267-9
    By:
    • Al Khleifat, Ahmad;
    • Iacoangeli, Alfredo;
    • van Vugt, Joke J. F. A.;
    • Bowles, Harry;
    • Moisse, Matthieu;
    • Zwamborn, Ramona A. J.;
    • van der Spek, Rick A. A.;
    • Shatunov, Aleksey;
    • Cooper-Knock, Johnathan;
    • Topp, Simon;
    • Byrne, Ross;
    • Gellera, Cinzia;
    • López, Victoria;
    • Jones, Ashley R.;
    • Opie-Martin, Sarah;
    • Vural, Atay;
    • Campos, Yolanda;
    • van Rheenen, Wouter;
    • Kenna, Brendan;
    • Van Eijk, Kristel R.
    Publication type:
    Article

  • Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09976-3
    By:
    • Lees, John A.;
    • Ferwerda, Bart;
    • Kremer, Philip H. C.;
    • Wheeler, Nicole E.;
    • Serón, Mercedes Valls;
    • Croucher, Nicholas J.;
    • Gladstone, Rebecca A.;
    • Bootsma, Hester J.;
    • Rots, Nynke Y.;
    • Wijmega-Monsuur, Alienke J.;
    • Sanders, Elisabeth A. M.;
    • Trzciński, Krzysztof;
    • Wyllie, Anne L.;
    • Zwinderman, Aeilko H.;
    • van den Berg, Leonard H.;
    • van Rheenen, Wouter;
    • Veldink, Jan H.;
    • Harboe, Zitta B.;
    • Lundbo, Lene F.;
    • de Groot, Lisette C. P. G. M.
    Publication type:
    Article

  • Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 525, doi. 10.3233/JND-220798
    By:
    • Boon, Helena T.M.;
    • Jacobs, Bram;
    • Wouter, van Rheenen;
    • Kamsteeg, Erik-Jan;
    • Kuks, Jan B.M.;
    • Vincent, Angela;
    • Eymard, Bruno;
    • Voermans, Nicol C.
    Publication type:
    Article

  • Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

    Published in:
    Nature Communications, 2017, v. 8, n. 3, p. 14774, doi. 10.1038/ncomms14774
    By:
    • McLaughlin, Russell L.;
    • Schijven, Dick;
    • van Rheenen, Wouter;
    • van Eijk, Kristel R.;
    • O'Brien, Margaret;
    • Kahn, René S.;
    • Ophoff, Roel A.;
    • Goris, An;
    • Bradley, Daniel G.;
    • Al-Chalabi, Ammar;
    • van den Berg, Leonard H.;
    • Luykx, Jurjen J.;
    • Hardiman, Orla;
    • Veldink, Jan H.
    Publication type:
    Article

  • Genomic signals of migration and continuity in Britain before the Anglo-Saxons.

    Published in:
    Nature Communications, 2016, v. 7, n. 1, p. 10326, doi. 10.1038/ncomms10326
    By:
    • Martiniano, Rui;
    • Caffell, Anwen;
    • Holst, Malin;
    • Hunter-Mann, Kurt;
    • Montgomery, Janet;
    • Müldner, Gundula;
    • McLaughlin, Russell L.;
    • Teasdale, Matthew D.;
    • van Rheenen, Wouter;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.;
    • Hardiman, Orla;
    • Carroll, Maureen;
    • Roskams, Steve;
    • Oxley, John;
    • Morgan, Colleen;
    • Thomas, Mark G.;
    • Barnes, Ian;
    • McDonnell, Christine;
    • Collins, Matthew J.
    Publication type:
    Article

  • Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell-derived model.

    Published in:
    2016
    By:
    • Harschnitz, Oliver;
    • van den Berg, Leonard H.;
    • Johansen, Lill Eva;
    • Jansen, Marc D.;
    • Kling, Sandra;
    • Vieira de Sá, Renata;
    • Vlam, Lotte;
    • van Rheenen, Wouter;
    • Karst, Henk;
    • Wierenga, Corette J.;
    • Pasterkamp, R. Jeroen;
    • van der Pol, W. Ludo;
    • Vieira de Sá, Renata
    Publication type:
    journal article

  • Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

    Published in:
    Annals of Neurology, 2011, v. 70, n. 6, p. 964, doi. 10.1002/ana.22611
    By:
    • van Es, Michael A.;
    • Schelhaas, Helenius J.;
    • van Vught, Paul W. J.;
    • Ticozzi, Nicola;
    • Andersen, Peter M.;
    • Groen, Ewout J. N.;
    • Schulte, Claudia;
    • Blauw, Hylke M.;
    • Koppers, Max;
    • Diekstra, Frank P.;
    • Fumoto, Katsumi;
    • LeClerc, Ashley Lyn;
    • Keagle, Pamela;
    • Bloem, Bastiaan R.;
    • Scheffer, Hans;
    • van Nuenen, Bart F. L.;
    • van Blitterswijk, Marka;
    • van Rheenen, Wouter;
    • Wills, Anne-Marie;
    • Lowe, Patrick P.
    Publication type:
    Article

  • SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.

    Published in:
    Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab236
    By:
    • Iacoangeli, Alfredo;
    • Fogh, Isabella;
    • Selvackadunco, Sashika;
    • Topp, Simon D.;
    • Shatunov, Aleksey;
    • van Rheenen, Wouter;
    • Al-Khleifat, Ahmad;
    • Opie-Martin, Sarah;
    • Ratti, Antonia;
    • Calvo, Andrea;
    • Van Damme, Philip;
    • Robberecht, Wim;
    • Chio, Adriano;
    • Dobson, Richard J.;
    • Hardiman, Orla;
    • Shaw, Christopher E.;
    • van den Berg, Leonard H.;
    • Andersen, Peter M.;
    • Smith, Bradley N.;
    • Silani, Vincenzo
    Publication type:
    Article

  • Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 17, p. 3776, doi. 10.1093/hmg/dds199
    By:
    • van Blitterswijk, Marka;
    • van Es, Michael A.;
    • Hennekam, Eric A.M.;
    • Dooijes, Dennis;
    • van Rheenen, Wouter;
    • Medic, Jelena;
    • Bourque, Pierre R.;
    • Schelhaas, Helenius J.;
    • van der Kooi, Anneke J.;
    • de Visser, Marianne;
    • de Bakker, Paul I.W.;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.
    Publication type:
    Article

  • NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 11, p. 2497, doi. 10.1093/hmg/dds064
    By:
    • Blauw, Hylke M.;
    • van Rheenen, Wouter;
    • Koppers, Max;
    • Van Damme, Philip;
    • Waibel, Stefan;
    • Lemmens, Robin;
    • van Vught, Paul W. J.;
    • Meyer, Thomas;
    • Schulte, Claudia;
    • Gasser, Thomas;
    • Cuppen, Edwin;
    • Pasterkamp, R. Jeroen;
    • Robberecht, Wim;
    • Ludolph, Albert C.;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.
    Publication type:
    Article

  • Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis.

    Published in:
    Acta Neuropathologica, 2016, v. 131, n. 3, p. 465, doi. 10.1007/s00401-016-1534-4
    By:
    • El Oussini, Hajer;
    • Scekic-Zahirovic, Jelena;
    • Vercruysse, Pauline;
    • Sinniger, Jérôme;
    • Dirrig-Grosch, Sylvie;
    • Dieterlé, Stéphane;
    • Echaniz-Laguna, Andoni;
    • Larmet, Yves;
    • Thal, Dietmar;
    • Lawson, Roland;
    • Monassier, Laurent;
    • Maroteaux, Luc;
    • Roumier, Anne;
    • Dupuis, Luc;
    • Bayer, Hanna;
    • Müller, Kathrin;
    • Weishaupt, Jochen;
    • Ludolph, Albert;
    • Witting, Anke;
    • van Rheenen, Wouter
    Publication type:
    Article

  • Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42091-3
    By:
    • Dekker, Annelot M.;
    • Diekstra, Frank P.;
    • Pulit, Sara L.;
    • Tazelaar, Gijs H. P.;
    • van der Spek, Rick A.;
    • van Rheenen, Wouter;
    • van Eijk, Kristel R.;
    • Calvo, Andrea;
    • Brunetti, Maura;
    • Damme, Philip Van;
    • Robberecht, Wim;
    • Hardiman, Orla;
    • McLaughlin, Russell;
    • Chiò, Adriano;
    • Sendtner, Michael;
    • Ludolph, Albert C.;
    • Weishaupt, Jochen H.;
    • Pardina, Jesus S. Mora;
    • van den Berg, Leonard H.;
    • Veldink, Jan H.
    Publication type:
    Article

  • A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

    Published in:
    Human Molecular Genetics, 2010, v. 19, n. 20, p. 4091, doi. 10.1093/hmg/ddq323
    By:
    • Blauw, Hylke M.;
    • Al-Chalabi, Ammar;
    • Andersen, Peter M.;
    • van Vught, Paul W.J.;
    • Diekstra, Frank P.;
    • van Es, Michael A.;
    • Saris, Christiaan G.J.;
    • Groen, Ewout J.N.;
    • van Rheenen, Wouter;
    • Koppers, Max;
    • van't Slot, Ruben;
    • Strengman, Eric;
    • Estrada, Karol;
    • Rivadeneira, Fernando;
    • Hofman, Albert;
    • Uitterlinden, Andre G.;
    • Kiemeney, Lambertus A.;
    • Vermeulen, Sita H.M.;
    • Birve, Anna;
    • Waibel, Stefan
    Publication type:
    Article

  • Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.

    Published in:
    Science Translational Medicine, 2022, v. 14, n. 633, p. 1, doi. 10.1126/scitranslmed.abj0264
    By:
    • Hop, Paul J.;
    • Zwamborn, Ramona A.J.;
    • Hannon, Eilis;
    • Shireby, Gemma L.;
    • Nabais, Marta F.;
    • Walker, Emma M.;
    • van Rheenen, Wouter;
    • van Vugt, Joke J.F.A.;
    • Dekker, Annelot M.;
    • Westeneng, Henk-Jan;
    • Tazelaar, Gijs H.P.;
    • van Eijk, Kristel R.;
    • Moisse, Matthieu;
    • Baird, Denis;
    • Al Khleifat, Ahmad;
    • Iacoangeli, Alfredo;
    • Ticozzi, Nicola;
    • Ratti, Antonia;
    • Cooper-Knock, Jonathan;
    • Morrison, Karen E.
    Publication type:
    Article

  • Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study.

    Published in:
    PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198874
    By:
    • van Rheenen, Wouter;
    • Diekstra, Frank P.;
    • Harschnitz, Oliver;
    • Westeneng, Henk-Jan;
    • van Eijk, Kristel R.;
    • Saris, Christiaan G. J.;
    • Groen, Ewout J. N.;
    • van Es, Michael A.;
    • Blauw, Hylke M.;
    • van Vught, Paul W. J.;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.
    Publication type:
    Article

  • Dutch population structure across space, time and GWAS design.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18418-4
    By:
    • Byrne, Ross P.;
    • van Rheenen, Wouter;
    • van den Berg, Leonard H.;
    • Veldink, Jan H.;
    • McLaughlin, Russell L.
    Publication type:
    Article

  • Circulating microRNAs in patients with intracranial aneurysms.

    Published in:
    PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0176558
    By:
    • Meeuwsen, John A. L.;
    • van ´t Hof, Femke N. G.;
    • van Rheenen, Wouter;
    • Rinkel, Gabriel J. E.;
    • Veldink, Jan H.;
    • Ruigrok, Ynte M.
    Publication type:
    Article